D5S436位点的Amp-FLP分析及其在哮喘基因诊断中的应用

Amp FLP Analysis on D5S436 Locus and Its Application to Linkage Analysis in Gene Diagnosis of Asthma

用扩增片段长度多态性技术（ＡｍｐＦＬＰ）分析中国人的Ｄ５Ｓ４３６位点的ＤＮＡ多态性。检测了９２名无血缘关系的中国人，发现了８个等位基因，２２种基因型，杂合性为７８．２６％，多态信息量为０．７９。观察的基因型频率的分布符合ＨａｒｄｙＷｅｉｎｂｅｒｇ遗传平衡。检测的４例哮喘家系成员的基因型结果说明该位点属孟德尔式遗传。

To detect the polymorphsism of D5S436 locus by using amplified fragment length polymorphism (Amp FLP), allele and genotype frequencies of the hightly polymorphic D5S436 locus were determined in 92 unrelated Chinese individuals. The amplified fragments were separated by denaturing polyacrylamide gel electrophoresis and the gel was silver stained. 8 alleles and 22 genotypes were observed in this population. The heterozygosity was 78.26%. The polymorphism information content (PIC) is 0.79. Amp FLP genotyping linkage analyses were carried out in four asthma families, demonstrated that the locus was inherited according to Mendelian law and have a clear result. It is concluded that D5S436 can be used as a genetic marker of asthma in Chinese and maybe helpful in the gene diagnosis of asthma.